Genetics: Mendel's Laws of Inheritance

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Questions and Answers

The work of Mendel and others gave us an idea of inheritance ______.

patterns

The entire body of molecular biology was a consequent development with major contributions from Watson and ______.

Crick

Gregor Mendel conducted hybridization experiments on ______ peas for seven years (1856-1863).

garden

During Mendel's investigations into inheritance patterns it was for the first time that ______ analysis and mathematical logic were applied to problems in biology.

<p>statistical</p> Signup and view all the answers

A true-breeding line is one that, having undergone continuous self-pollination, shows stable ______ inheritance and expression for several generations.

<p>trait</p> Signup and view all the answers

Genes which code for a pair of contrasting traits are known as ______.

<p>alleles</p> Signup and view all the answers

If we use alphabetical symbols for each gene, then the ______ letter is used for the trait expressed at the F1 stage and the small alphabet for the other trait.

<p>capital</p> Signup and view all the answers

Mendel also proposed that in a true breeding, tall or dwarf pea variety the allelic pair of genes for height are identical or ______, TT and tt, respectively.

<p>homozygous</p> Signup and view all the answers

Mendel found the phenotype of the F, heterozygote Tt to be exactly like the TT parent in appearance, he proposed that in a pair of dissimilar factors, one ______ the other.

<p>dominates</p> Signup and view all the answers

From the observation that the recessive parental trait is expressed without any blending in the F2 generation, we can infer that, when the tall and dwarf plant produce gametes, by the process of ______, the alleles of the parental pair separate or segregate from each other

<p>meiosis</p> Signup and view all the answers

The segregation of alleles is a ______ process and so there is a 50 per cent chance of a gamete containing either allele.

<p>random</p> Signup and view all the answers

In other words the hybrids have Tt. Since these hybrids contain alleles which express contrasting traits, the plants are ______.

<p>heterozygous</p> Signup and view all the answers

A ______ is a graphical representation to calculate the probability of all possible genotypes of offspring in a genetic cross.

<p>Punnett Square</p> Signup and view all the answers

From the Punnett square it is easily seen that 1/4th of the random fertilisations lead to TT, 1/2 lead to Tt and 1/4th to ______.

<p>tt</p> Signup and view all the answers

To determine the genotype of a tall plant at F2, Mendel crossed the tall plant from F2 with a dwarf plant. This he called a ______.

<p>test cross</p> Signup and view all the answers

In the case of co-dominance the F1 generation resembles ______ parents.

<p>both</p> Signup and view all the answers

The plasma membrane of the red blood cells has ______ polymers that protrude from its surface and the kind of sugar is controlled by the gene.

<p>sugar</p> Signup and view all the answers

Starch is synthesised effectively by BB ______ and therefore, large starch grains are produced.

<p>homozygotes</p> Signup and view all the answers

Let us use the genotypic symbols Y for dominant yellow seed colour and y for recessive green seed colour, R for round shaped seeds and r for ______ seed shape.

<p>wrinkled</p> Signup and view all the answers

When two pairs of traits are combined in a hybrid, segregation of one pair of characters is ______ of the other pair of characters.

<p>independent</p> Signup and view all the answers

The Punnett square can be effectively used to understand the independent segregation of the two pairs of genes during ______ and the production of eggs and pollen in the F1 Rryy plant.

<p>meiosis</p> Signup and view all the answers

The four types are RY, Ry, rY and ry each with a frequency of ______ per cent or 1/4th of the total gametes produced.

<p>25</p> Signup and view all the answers

Sutton united the knowledge of chromosomal segregation with Mendelian principles and called it the ______ theory of inheritance.

<p>chromosomal</p> Signup and view all the answers

Morgan attributed this due to the physical association or linkage of the two genes and coined the term ______ to describe this physical association of genes on a chromosome.

<p>linkage</p> Signup and view all the answers

Besides the involvement of multiple genes polygenic inheritance also takes into account the influence of ______.

<p>environment</p> Signup and view all the answers

We have so far seen the effect of a gene on a single phenotype or trait. There are however instances where a single gene can exhibit multiple phenotypic expression. Such a gene is called a ______ gene.

<p>pleiotropic</p> Signup and view all the answers

The initial clue about the genetic/chromosomal mechanism of sex determination can be traced back to some of the experiments carried out in ______.

<p>insects</p> Signup and view all the answers

In human beings and in Drosophila the males have one X and one ______ chromosome, whereas females have a pair of X-chromosomes besides autosomes.

<p>Y</p> Signup and view all the answers

Mutation is a phenomenon which results in alteration of ______ sequences and consequently results in changes in the genotype and the phenotype of an organism.

<p>DNA</p> Signup and view all the answers

After the rediscovery of Mendel's work the practice of analysing inheritance pattern of traits in human beings began. Since it is evident that control crosses that can be performed in pea plant or some other organisms, are not possible in case of human beings, study of the family history about inheritance of a particular trait provides an alternative. Such an analysis of traits in a several of generations of a family is called the ______.

<p>pedigree analysis</p> Signup and view all the answers

Flashcards

Genes

Units of inheritance containing information to express a particular trait.

Alleles

Alternative forms of a gene, coding for contrasting traits.

Homozygous

Having identical alleles for a trait (e.g., TT or tt).

Genotype

The genetic makeup of an organism (e.g., TT, Tt, or tt).

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Phenotype

The observable characteristics of an organism (e.g., tall or dwarf).

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Dominant Factor

In a heterozygote, the allele that masks the expression of the other.

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Recessive Factor

In a heterozygote, the allele whose expression is masked.

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Monohybrid Cross

A cross involving only one character (height).

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Segregation

The alleles of the parental pair separate during gamete formation.

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Punnett Square

Graphical representation to calculate the probability of all possible genotypes of offspring.

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Test Cross

Cross between an organism with dominant phenotype and a recessive parent.

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Incomplete Dominance

When one allele isn't completely dominant over another, blending occurs.

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Co-dominance

Both alleles are expressed in the heterozygote.

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Multiple Alleles

More than two alleles govern the same character

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Dihybrid Cross

Cross where parents differ in two traits.

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Independent Assortment

Segregation of one pair of characters is independent to the segregation of the other pair of characters

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Linkage

Physical association of genes on a chromosome

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Recombination

Generation of non-parental gene combinations

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Polygenic Inheritance

Traits controlled by three or more genes

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Pleiotropy

A single can exhibit multiple phenotypic expressions.

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Male Heterogamety

Mechanism of sex determination where males produce two different types of gametes

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Female heterogamety

Females produce two different types of gametes

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Mutation

Change in DNA sequence that effects genotype and phenotype

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Pedigree Analysis

Analysis of traits in a family tree, tracking inheritance across generations.

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Mendelian Disorders

Genetic disorders caused by alteration or mutation in a single gene.

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Chromosomal Disorder

Genetic disorder caused by the absence or excess of one or more chromosomes.

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Aneuploidy

Gain or loss of a chromosome

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Monosomy

One chromosome is missing

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Trisomy

Additional copy of a chromosome

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Study Notes

  • Genetics and Evolution are the main topics in Unit VII.
  • This unit examines and explains the structure, function of DNA, story, and theory of evolution.

Genetics

  • Genetics addresses questions about heredity by seeking to understand how an elephant always gives birth to baby elephant and not other animal, why mango seeds only grow into mango tress, why some siblings look similar and others do not
  • Genetics deals with inheritance and variation of traits from parents to offspring.
  • Inheritance is how traits pass from parent to offspring and forms the basis of heredity.
  • Variation is the degree to which offspring differ from their parents.
  • Humans understood that sexual reproduction hid causes of variation as early as 8000-1000 B.C
  • People used the variations of wild plants and animals to selectively breed organisms with desirable traits.

Mendel's Laws of Inheritance

  • Gregor Mendel's hybridization experiments with garden peas (1856-1863) led to laws of inheritance.
  • Mendel applied statistical analysis and mathematical logic to biology, collected data from large samples, and confirmed inferences from test plants through successive generations, proving his results pointed to substantiated general rules rather than unsubstantiated ideas.
  • Mendel studied contrasting traits such as tall/dwarf plants and yellow/green seeds, allowing him to create the rules governing inheritance
  • Mendel used true-Breeding pea lines for artificial pollination/cross-pollination experiments, resulting in stable trait inheritance and expression.
  • Mendel chose 14 true-breeding pea plant varieties.

Contrasting Traits Studied by Mendel

  • Stem Height: Tall/dwarf
  • Flower color: Violet/white
  • Flower position: Axial/terminal
  • Pod shape: Inflated/constricted
  • Pod color: Green/yellow
  • Seed shape: Round/wrinkled
  • Seed color: Yellow/green

Inheritance of One Gene

  • Mendel crossed tall and dwarf pea plants, collecting seeds and growing them into the first hybrid generation.
  • Filial(offspring) or F1 , was all tall plants
  • He found that the F1 always resembled one parent, with no sign of the trait from the other parent, so when tall was crossed with green, all offspring were tall
  • Mendel self-pollinated the tall F1 plants and found that some of the offspring in the Filial2, generation were dwarf.
  • 1/4 of the F2 plants were dwarf, while 3/4 were tall, showing no blending.
  • Only one of the parental traits was expressed in the F1 generation, but both traits showed at the F2 stage at 3:1.

Factors & Genes

  • Mendel proposed that something was being passed down through gametes which he called factors, now known as genes
  • Genes contain the information needed to express a particular trait and the units of inheritance.
  • Alleles are genes coding for a pair of contrasting traits.
  • Uppercase letters represent traits expressed at the F1 stage, while lowercase letters represent the other trait, such as T for Tall and t for dwarf.

Genotypes & Phenotypes

  • TT and tt are homozygous, while TT and tt are the genotype and tall and dwarf is the descriptive phenotype
  • The F1 heterozygote Tt plants have the same phenotype as the TT parent, resulting in dissimilar factors resulting in one being dominant and thus the other being recessive.
  • T is dominant for tallness, while t is recessive (dwarfness)

Monohybrid

  • Heterozygous plants like Tt are monohybrids, so a cross done between TT and tt is thus a monohybrid cross.
  • Recessive traits show in the F2 without blending, we infer traits process from both plants, but during meiosis, alleles separate with only one transmitted to a gamete
  • This segregation causes a 50 per cent chance of a gamete containing either allele
  • Tall TT plants have gametes with allele T, while dwarf tt plants' gametes have allele t. T from the pollen unites with the egg(t) in fertilization that create hybrids with Tt

Punnett Square developed by Reginald C. Punnett

  • Graphical representation calculates probability of offspring genotypes.
  • Gametes are written on two sides, and resulting combinations are in the boxes.
  • The Punnett Square shows T as pollen from the parental tall (male) and t are the female dwarf. Then the F1 progeny is produced as Tt .
  • The monohybrid cross between true-breeding tall and dwarf plants shows phenotypic ratio of tall to dwarf as 3:1, while the genotypic ratio of TT: Tt: tt is 1:2:1.
  • Random fertilization results in three kinds of zygotes TT, Tt, or tt.
  • One experiment can lead to TT, 1. to Tt and 1. to tt. F1 has a Tt genotype, but the tall phenotype, so from the f2 generation 1. the plants are tall, while the others are Tt which still make it tall. So the T allele makes the ‘tall’ expression
  • The character T or 'tall' surpasses other characters due to the dominance of one character over the other, where the f1 generation are tall, f2 plants are 3/4 tall where half is Tt, and 1/4 is TT.
  • A phenotypic ratio is 3/4 to 1/4, or a 3:1, but a genotypic ratio is 1:2:1.
  • Mendel self-pollinated F₂ plants found that dwarf generates dwarf, so dwarfs are homozygous, which may be observed if you self-pollinate an F₂ plant that is tall.

Test Cross

  • To know the F₁ generation is the TT or Tt can be determined by the genotype phenotype ratio.
  • Mendel crossed the tall F₂ plant with a dwarf plant, known as a test cross, to determine if the tall plant will carry the recessive trait (Tt) or just dominant (TT)

Law of Dominance

  • Characters are controlled by factors.
  • Factors occur in pairs.
  • In a dissimilar pair of factors, one dominates, and the other remains recessive which is from the expression of each parent.
  • F₁ in monohybrid is based on it

Law of Segregation

  • This law is based on the fact that alleles do not show any blending, but contain two alleles which segregate during gamete formation so the gamete receives only one trait.
  • Homozygous parents make similar gametes, while heterozygous parents produce 2 kinds of equal proportion (50/50)

Incomplete Dominance

  • Found that the F1 does not resemble of the 2 parents. inheritance of flower color of the dog flower with RR (true bredding red flowered) with rr which makes F1 to be all pink.
  • An explanation of why alleles dominant or recessive, but we must know what a gene can do. 1 gene has 2 copies, or a pair of alleles while in organisms due to changes( modifications of information that particular allele), but this is not the norm.
  • Take a gene that has information in creating an enzyme has 2 allelic forms that can be normal and transformation S and a modified to be less efficient or make none at all.

Codominance

  • Some F₁ generations show both trait from of the original crossed traits. ABO blood type where I has 3 options of alleles A, B, or i- but humans are dilpoid- where each has has 2 chromosomes
  • A and B are all dominant over i. However, where A and B line up, is an ex of Co dominance

Human Blood Groups and Multiple Alleles

  • What about multiple alleles? There can exist three governing alleles in blood groups, but only two present themselves, based on environment? In the ABO example.
  • Synthesis can effect single produce as with starch in Pea which synthesized through BB and produces large grains. Little synthesis from bb- BB round because dominant allele. However, its based, starch grain determines, so it will show incomplete dominance. But, it doesn’t rely on gene either- so it all relies on phenotype

Inheritance of Two Genes

  • Mednl worked and crossed plants that differed, like yellow round vs green shaped, with resulted in the cross had seeds w yellow color and round shape- so which in the pair was dominant?
  • A genetic code can be dominant but recessive, lets use Y dominant with recessive being “y”, R dominant with r, So, a cross between
  • 2 separate will be identical with YYRR with rryy, uniting and producing F 1 hybrid RrYy- where YY or yy 3. 4 plants had yellow vs ¼ had green, as segregation is 3.1. This segregation is monohybrid

Law of Independent Assortment

  • In that cross phenotype, you can wrinkled, yellow; round and green when appearance is 9.1?
  • The ratios can have a combination series with 3 yellow and 1 green while round versus wrinkled
  • Mednl on these observed that hybrids must contain 2 pairs of alleles on how they independent and unite (permutation +combination- so that is the Law. An Effective square will tell you independent of square meiosis)

Chromosomal Theory of Inheritance

  • Why was mendel work ignored until 1900? One the communication wasn’t good at the time- and the that stable distinct genes were unheard of, like why the pair alleles did not like
  • “ blend”. It would not explain how continuous relation was observed in nature Mendel’s math approach was new, and he has no provide direct existence or proof of factors" genes"
  • De Vries etc rediscovered Mendel’s results due to cell observation of the chromosomes as they move and replicate so the scientists saw that Walther Sudon+ Boveri- used movement explained
  • Mendel Laws- recall chromosomes + genes occur in pair alleles are homologs which were observed in paired chromosomes.
  • Pairing segregation of chromosomes from chromosomes lead to a pair that Sutton linked +called the chromosomes theory of inheritance( after those ideas Thomas hunt + co lead the base variation of what sexual reproduction produced).
  • They crossed many dihybrid with flies to have two genes carried from the same sex link similar with cross of Mendel pea, crossing of parents not independent with results deviating from what should be as dominant.
  • Linkage is what coins them- because it is a physical association that doesn’t let the results happen to change.

Polygenic

  • They can be more of course than one alleles- the involvement of multiple genes- human skin colors has alleles work in addition the dominance. Can tell lightness of one or the other with which combo and mix exist.

Pleiotropy

  • Gene in a phenotype We say an effect gene can’t show phenotypes unless it acts on path that can cause things!
  • Ex Phenlketonria. That gene manifest phenotyic as retartation, etc)

Sex Determination

  • Early clue can be attributed to insects but heaking that traced through a process sperm receieved it or not which gave it.
  • Those lead a lead of investigations through the different mechanics a large insects of the type( X0 type- some is other is not from fertilations.
  • However, determine in term which it was named sex chromosomes and others (grasshopper of x0 which male x- whereas XX chromosome. Those leads
  • Humans/males/mammales where female males same count- males+female have same autosomal and what the chromosome tells their.

Mutation

  • Mutation alters both the DNA and the person. In addition to recreation DNA leads in multiple areas like DNA helix from 5. “to other. Thus gain or lots
  • Can cause alter as genes are what control the chromosomal like abnormal cells. These do can rise due change pair.

Mendelian Disorders

  • Broad or chromosal ( alter vs mutations vs study patterns like Hemophilia etc)

Color Blidness

  • linked of eye so to discriminate and in X and males +female carry it. Carriers can have the son effected despite not caring.

Down sydrome

  • Presence of the condition of Trisimy of 21 First Down is how described but the affected has smaller head and tongue out.

Klinefelter is an additional X copy

  • Feminish traits

Turner Syndrome

  • Caused due absence so femals and fertitlites

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